Background information for Hereditary Persistence of Fetal Hemoglobin (HPFH) 8 Mutations:Characteristics: HPFH is a clinically benign condition resulting from mutations within the beta globin gene cluster that alter normal hemoglobin switching and result in persistent production of hemoglobin F (Hb F). Individuals heterozygous for an HPFH deletion typically have elevated levels of Hb F with normal red blood cell indices, while homozygotes typically have Hb F levels approaching 100 percent and mild erythrocytosis. When an HPFH deletion is paired with another beta globin gene mutation, variable phenotypes can result.Incidence: Varies depending on the population. Cause: Beta globin gene cluster deletions and point mutations within the promoter of the gamma globin genes. Mutations Tested: HPFH-1 (g.5174452_5259368del84917), HPFH-2 (g.5180404_5263982del83579), HPFH-3 (g.5215683_5265453del49771), HPFH-4 (g.5217940_5260078del42139), HPFH-5 (g.5246023_5258951del12929), HPFH-6 (g.5193975_5273259del79278), HPFH-7 (g.5247860_5270651del22792), and SEA-HPFH (g.5222878_5250288del27411).Clinical Sensitivity: Unknown.Methodology: Multiplex PCR and gel electrophoresis.Analytic Sensitivity: Greater than 95 percent for the 8 targeted HPFH deletions.Limitations: Only the 8 targeted deletions associated with HPFH will be interrogated. Point mutations or rare deletions that cause HPFH or delta/beta thalassemia will not be identified. Other genetic modifiers of Hb F levels will not be assessed. This test will not differentiate homozygosity for an HPFH deletion from an HPFH deletion paired with a rare globin gene cluster deletion. Diagnostic errors can occur due to rare sequence variations.

See Compliance Statement C: www.aruplab.com/CS

Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

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